Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520611
rs1057520611
0.010 GeneticVariation BEFREE Four previously reported polymorphisms (K1183R, S1613G, and M1652I in BRCA1, and 7470A>G in BRCA2) were detected in both controls and breast cancer patients. 17018160

2006

dbSNP: rs1135401927
rs1135401927
TA 0.700 CausalMutation CLINVAR

dbSNP: rs11571653
rs11571653
0.030 GeneticVariation BEFREE We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively. 28419251

2017

dbSNP: rs11571653
rs11571653
0.030 GeneticVariation BEFREE In contrast, a significant increase in breast cancer risk (odds ratio, 2.03; 95% confidence interval, 1.07-3.87) was observed in carriers of the variant allele (V784) of the M/V784 polymorphism as compared with noncarriers after adjustment for the classical risk factors, age, family history, parity, body mass index, and so forth. 12684407

2003

dbSNP: rs11571653
rs11571653
0.030 GeneticVariation BEFREE Our results further suggest that the CHEK2-1100delC mutation in combination with BRCA2-Met784Val may lead to an unexpected high risk which needs to be confirmed in larger cohorts in order to better understand their role in the development and prognosis of breast cancer. 23803109

2013

dbSNP: rs11571707
rs11571707
0.010 GeneticVariation BEFREE A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history.The tumor was not available for study. 19851859

2010

dbSNP: rs11571747
rs11571747
0.700 GeneticVariation UNIPROT

dbSNP: rs11571769
rs11571769
0.700 GeneticVariation UNIPROT

dbSNP: rs11571833
rs11571833
0.740 GeneticVariation BEFREE A rare truncating BRCA2 genetic variant, rs11571833 (K3326X), has been associated with a 2.5-fold risk of lung squamous cell carcinoma but only a modest 26% increase in breast cancer risk. 25838448

2015

dbSNP: rs11571833
rs11571833
0.740 GeneticVariation BEFREE For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. 26586665

2016

dbSNP: rs11571833
rs11571833
0.740 GeneticVariation BEFREE This data is consistent with recent iCOGs data suggesting that this variant is not neutral with respect to breast cancer risk. rs11571833 may need to be included in SNP panels for evaluating breast cancer risk. 26455428

2015

dbSNP: rs11571833
rs11571833
T 0.740 GeneticVariation GWASDB Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 23535729

2013

dbSNP: rs11571833
rs11571833
0.740 GeneticVariation BEFREE Despite classification of the BRCA2c.9976A>T, p.(Lys3326Ter) variant as a polymorphism, it has been associated with increased risks of pancreatic, lung, oesophageal and breast cancer. 26041759

2015

dbSNP: rs1298550035
rs1298550035
0.700 GeneticVariation UNIPROT

dbSNP: rs1334767632
rs1334767632
0.010 GeneticVariation BEFREE The initial two stages, which involved up to 797 high-risk BC patients, 1504 consecutive BC cases, and 1081 healthy women, indicated a potentially BC-predisposing role for 6 candidates, i.e., USP39 c.*208G > C, PZP p.Arg680Ter, LEPREL1 p.Pro636Ser, SLIT3 p.Arg154Cys, CREB3 p.Lys157Glu, and ING1 p.Pro319Leu. 31754952

2020

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE In conclusion, the genetic variants evaluated are unlikely to have a substantial overall association with breast cancer risk; however, weak associations are possible for XRCC3 (T241M and IVS7-14A>G), BRCA2 N372H, and ZNF350 S472P. 16485136

2006

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE These results suggest that the M/V784 polymorphism, but not the N/H372 polymorphism, would be useful in the selection of women at high risk for developing breast cancer and would also serve as a clinically useful prognostic factor in breast cancer patients. 12684407

2003

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Overall, no significant associations were found between BRCA2 N372H polymorphism and breast cancer risk when all studies pooled into the meta-analysis (NH versus NN: OR = 1.01, 95% CI = 0.97-1.05; HH versus NN: OR = 1.05, 95% CI = 0.97-1.13; dominant model: OR = 1.01, 95% CI = 0.98-1.05; and recessive model: OR = 1.05, 95% CI = 0.98-1.13). 20135345

2010

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Here we show that a common human polymorphism (N372H) in exon 10 of BRCA2 confers an increased risk of breast cancer: the HH homozygotes have a 1.31-fold (95% CI, 1.07-1.61) greater risk than the NN group. 11062481

2000

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Considering the relevant role of BRCA2 in MBC, we investigated whether the BRCA2 N372H variant, representing the only common non-synonymous polymorphism in BRCA2, might modulate the risk of BC in male populations. 17767707

2007

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE The BRCA2 N372H polymorphism appears to be associated with a modest recessively inherited risk of breast cancer in Australian women. 11927503

2002

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Nonetheless, published data were consistent with associations between: (a) the OGG1 S326C variant and increased risk of various types of cancer; (b) the XRCC1 R194W variant and reduced risk of various types of cancer; and (c) the BRCA2 N372H variant and increased risk of breast cancer. 12496039

2002

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE Modulation of HAT activity by BRCA2 N372H variation is a new mechanism of paclitaxel resistance in breast cancer. 28431939

2017

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE The BRCA2 homozygous variation p.N372H, previously associated with an increased risk for developing breast cancer, was not identified in this study. 15918047

2005

dbSNP: rs144848
rs144848
0.100 GeneticVariation BEFREE To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia. 16257105

2006